Canonical Allele Identifier: CA413242485

Gene: SMC1A

Linked Data

• gnomAD v4: X-53380726-G-A
• MyVariant Identifiers: chrX:g.53407647G>A (hg19) ; chrX:g.53380726G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380726G>A , CM000685.2:g.53380726G>A	GRCh38
NC_000023.10:g.53407647G>A , CM000685.1:g.53407647G>A	GRCh37
NC_000023.9:g.53424372G>A	NCBI36
NG_006988.2:g.46945C>T , LRG_773:g.46945C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3512C>T MANE Select	ENSP00000323421.3:p.Ala1171Val
ENST00000674590.1:c.2744C>T	ENSP00000502626.1:p.Ala915Val
ENST00000675504.1:c.3446C>T	ENSP00000502524.1:p.Ala1149Val
ENST00000322213.8:c.3512C>T	ENSP00000323421.3:p.Ala1171Val
ENST00000375340.10:c.3446C>T	ENSP00000364489.7:p.Ala1149Val
ENST00000470241.2:c.732C>T
NM_001281463.1:c.3446C>T , LRG_773t1:c.3446C>T	NP_001268392.1:p.Ala1149Val
NM_006306.3:c.3512C>T , LRG_773t2:c.3512C>T	NP_006297.2:p.Ala1171Val
NM_006306.4:c.3512C>T MANE Select	NP_006297.2:p.Ala1171Val